ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) (rs727503788)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152732 SCV000226996 pathogenic not provided 2014-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000152732 SCV000491231 pathogenic not provided 2016-11-08 criteria provided, single submitter clinical testing The S22X nonsense variant in the ACADVL gene has been reported previously in association with very long-chain acyl-CoA dehydrogenase deficiency (Watanabe et al., 2000). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985184 SCV001133199 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-09-26 no assertion criteria provided clinical testing

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